SCA32
MCID: SPN259
MIFTS: 23

Spinocerebellar Ataxia 32 (SCA32)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 32

MalaCards integrated aliases for Spinocerebellar Ataxia 32:

Name: Spinocerebellar Ataxia 32 58 13 74
Sca32 58 60
Cerebellar Ataxia with Azoospermia and Intellectual Disability 60
Spinocerebellar Ataxia Type 32 60

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 32
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
broad range of onset, particularly among females
one chinese family has been reported with limited clinical information (last curated april 2011)


HPO:

33
spinocerebellar ataxia 32:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 613909
ICD10 via Orphanet 35 G11.8
Orphanet 60 ORPHA276183
MedGen 43 C3151343
UMLS 74 C3151343

Summaries for Spinocerebellar Ataxia 32

OMIM : 58 Spinocerebellar ataxia-32 (SCA32) is an autosomal dominant neurologic disorder characterized by ataxia, variable mental impairment, and azoospermia in males (summary by Jiang et al., 2010). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (613909)

MalaCards based summary : Spinocerebellar Ataxia 32, is also known as sca32, and has symptoms including cerebellar ataxia Affiliated tissues include skin, liver and eye, and related phenotypes are cognitive impairment and testicular atrophy

Related Diseases for Spinocerebellar Ataxia 32

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia 32

Human phenotypes related to Spinocerebellar Ataxia 32:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cognitive impairment 60 33 frequent (33%) Frequent (79-30%) HP:0100543
2 testicular atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000029
3 azoospermia 60 33 frequent (33%) Frequent (79-30%) HP:0000027
4 progressive cerebellar ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002073
5 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
6 male infertility 60 33 frequent (33%) Frequent (79-30%) HP:0003251
7 ataxia 33 HP:0001251
8 infertility 33 HP:0000789

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
testicular atrophy
azoospermia
infertility
absence of germ cells and progenitors seen on biopsy

Neurologic Central Nervous System:
cerebellar atrophy
cerebellar ataxia
cognitive impairment in individuals with onset before age 40

Clinical features from OMIM:

613909

UMLS symptoms related to Spinocerebellar Ataxia 32:


cerebellar ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia 32

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 32

Genetic Tests for Spinocerebellar Ataxia 32

Anatomical Context for Spinocerebellar Ataxia 32

MalaCards organs/tissues related to Spinocerebellar Ataxia 32:

42
Skin, Liver, Eye

Publications for Spinocerebellar Ataxia 32

Variations for Spinocerebellar Ataxia 32

Expression for Spinocerebellar Ataxia 32

Search GEO for disease gene expression data for Spinocerebellar Ataxia 32.

Pathways for Spinocerebellar Ataxia 32

GO Terms for Spinocerebellar Ataxia 32

Sources for Spinocerebellar Ataxia 32

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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